A Case of Stickler Syndrome with Large Eyeballs.
- Author:
Eun Sil LEE
1
;
Jung A KIM
;
Ghee Young JUNG
;
Hyo Seon CHOI
;
Seong Hee PARK
Author Information
1. Department of Pediatrics, St. Francisco's General Hospital.
- Publication Type:Case Report
- Keywords:
Hereditary progressive arthro-ophthalmopathy
- MeSH:
Arthritis;
Child;
Connective Tissue;
Female;
Humans;
Hypertelorism;
Joints;
Lip;
Myopia;
Myopia, Degenerative;
Palate;
Penetrance;
Pierre Robin Syndrome;
Prognosis;
Retinal Detachment
- From:Journal of the Korean Society of Neonatology
1998;5(2):242-247
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Stickler syndrome is an autosomal dominant disorder of connective tissue with a wide range of expressivity and incomplete penetrance which is called hereditary progressive arthro-ophthalmopathy. Affected neohates may present with the Pierre-Robin syndrome, progressive myopia, retinal detachment, flat face, hypertelorism, progressive arthritis. Early recognition of the syndrome is important, not only for genetic counselling but also to offer a more precise prognosis and proper treatment of many serious disorders that may occur in affected children. We experienced a case of Stickler syndrome with large eyeballs in a 3-day-old female baby who showed Pierre-Robin anomaly, flat face, hypertelorism, epicanthal folds, long philtrum, micrognathia, deft palate, high congenital myopia, chorioretinal degeneration, thin habitus and hyperextensible joints.
